Genomics England
GMS Panels
Panels
Genes and Entities

ISCA-37430-Gain

17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Gain
PanelMode of inheritanceDetails
1 panel
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
613215, Chromosome 17p13.3 duplication syndrome, variable psychomotor delay and dysmorphic features, 17q11.2 microduplication syndrome